ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology
Showing page 1 of results 1 - 10 of about 12 matches for "schoenmakers-erik"
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Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop True congenital hypothyroidism Catherine Peters; Adeline K. Nicholas; Greta Lyons; Shirley Langham; Eva G. Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazz http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.7.htm Published: 2016-11-14
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Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins Carla Moran; Maura Agostini; Anne McGowan; Erik Schoenmakers; Louise Fairall; Greta Lyons; Odelia Rajanayagam; Laura Watson; Ama http://www.endocrine-abstracts.org/ea/0044/ea0044p241.htm Published: 2016-10-14
Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop True Congenital Hypothyroidism Catherine Peters; Adeline K Nicholas; Greta Lyons; Shirley Langham; Eva Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazzola; http://www.endocrine-abstracts.org/ea/0044/ea0044oc3.1.htm Published: 2016-10-14
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A multisystem selenoprotein disorder with a thyroid signature Nadia Schoenmakers; Erik Schoenmakers; Maura Agostini; Catherine Mitchell; Laura Papp; Odelia Rajanayagam; Raja Padidela; Rainer http://www.endocrine-abstracts.org/ea/0021/ea0021oc3.5.htm Published: 2010-03-31
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Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Elana Henning; Evelien Gevers; Marga http://www.endocrine-abstracts.org/ea/0027/ea0027oc1.4.htm Published: 2011-11-01
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Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Julia Keogh; Elana Henning; Jana Rei http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.5.htm Published: 2012-03-01
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The thyroid hormone receptor-coactivator interface mediates negative feedback regulation of the human pituitary-thyroid axis Carla Moran; Catherine Mitchell; Maura Agostini; Erik Schoenmakers; John Gregory; Mark Gurnell; Krishna Chatterjee http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.4.htm Published: 2012-03-01
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A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm Published: 2013-11-01
Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance Adeline K Nicholas; Safia Jaleel; Erik Schoenmakers; Mehul Dattani; Edna Roche; V Krishna Chatterjee; Nadia Schoenmakers http://www.endocrine-abstracts.org/ea/0036/ea0036P83.htm Published: 2014-10-14
A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism Olympia Koulouri; Adeline Nicholas; Erik Schoenmakers; Jacek Mokrosinski; Frances Lane; Trevor Cole; Jeremy Kirk; Sadaf Farooqi; http://www.endocrine-abstracts.org/ea/0038/ea0038oc5.2.htm Published: 2015-10-12
Event series: --All Event Series-- European Congress of Endocrinology British Endocrine Societies (pre 2005) Society for Endocrinology Annual Meeting Society for Endocrinology BES BSPED Annual Meeting Hammersmith Hospital ESE Basic Endocrinology Course World Congress on Clinical Trials in Diabetes Androgens Biannual Meeting UKINETS Annual Conference Theranostics World Congress Endocrine Update Obesity Update Nuclear Receptors Belgian Endocrine Society Meeting EYES Meeting
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